ClinVar Miner

Submissions for variant NM_006734.4(HIVEP2):c.6667C>T (p.Arg2223Ter)

dbSNP: rs1562493608
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760589 SCV000890480 pathogenic not provided 2022-01-24 criteria provided, single submitter clinical testing Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 224 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34704275, 31602191)
Clinical Genetics Laboratory, Skane University Hospital Lund RCV000760589 SCV005198439 pathogenic not provided 2022-07-14 criteria provided, single submitter clinical testing
GenomeConnect - Simons Searchlight RCV001265394 SCV001443519 pathogenic Intellectual disability, autosomal dominant 43 2018-09-28 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-09-28 and interpreted as Pathogenic. Variant was initially reported on 2018-06-29 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar.

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